Integrating Genetics and the Plasma Proteome to Predict the Risk of Type 2 Diabetes
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GENETICS (AP MORRIS, SECTION EDITOR)
Integrating Genetics and the Plasma Proteome to Predict the Risk of Type 2 Diabetes Julia Carrasco Zanini 1 & Maik Pietzner 1 & Claudia Langenberg 1
# The Author(s) 2020
Abstract Purpose of the Review Proteins are the central layer of information transfer from genome to phenome and represent the largest class of drug targets. We review recent advances in high-throughput technologies that provide comprehensive, scalable profiling of the plasma proteome with the potential to improve prediction and mechanistic understanding of type 2 diabetes (T2D). Recent Findings Technological and analytical advancements have enabled identification of novel protein biomarkers and signatures that help to address challenges of existing approaches to predict and screen for T2D. Genetic studies have so far revealed putative causal roles for only few of the proteins that have been linked to T2D, but ongoing large-scale genetic studies of the plasma proteome will help to address this and increase our understanding of aetiological pathways and mechanisms leading to diabetes. Summary Studies of the human plasma proteome have started to elucidate its potential for T2D prediction and biomarker discovery. Future studies integrating genomic and proteomic data will provide opportunities to prioritise drug targets and identify pathways linking genetic predisposition to T2D development. Keywords Plasma proteome . Genetics . Type 2 diabetes . Prediction . Causal risk factors
Introduction The global prevalence of diabetes, currently affecting 9.3% of the adult population, is predicted to increase up to 10.9% by 2045 [1]. This pandemic is largely attributable to an increase in the incidence of type 2 diabetes (T2D), the most common form of diabetes. A large proportion of affected adults do not have a clinical diagnosis [1], which can be delayed for several years after T2D onset [2, 3]. This leaves individuals with undiagnosed and untreated diabetes at high risk of developing severe and often irreversible microvascular and macrovascular complications [2, 4], and up to 30% of patients with T2D have been reported to present with evidence of retinopathy at the time of their diagnosis [5].
This article is part of the Topical Collection on Genetics * Claudia Langenberg [email protected] Julia Carrasco Zanini [email protected] Maik Pietzner [email protected] 1
MRC Epidemiology Unit, University of Cambridge, Cambridge, UK
Criteria for screening and diagnosis of diabetes are focussed on glycaemic control, and guidelines recommend measurement of fasting glucose and HbA1c [6, 7]. The risk of developing future T2D can be relatively well predicted using simple, non-invasive measures such as age, sex, body mass index, and family history, and a range of algorithms have been tested and compared [8]. Over the last decade, genetic studies have greatly advanced our understanding of the polygenetic architecture of T2D, but with little evidence so far for improved prediction [
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